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Neurogenètica i Medicina Molecular

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Publicacions

  • Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.

    Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.

    research square . : .

    [doi:10.21203/rs.3.rs-5682984/v1]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

    Diagnostics . 15(1): .

    [doi:10.3390/diagnostics15010010]

  • Llach J, Luzko I, Earl J, Barreto E, Rodríguez-Garrote M, Lleixà M, Herrera-Pariente C, Fernandez-Isern G, Munoz J, Bonjoch L, Saurí T, Ausania F, Ocaña T, Moreno L, Grau E, Oriola J, Alvarez-Mora MI, Herreros-Villanueva M, Castellví-Bel S, Balaguer F, Bujanda L and Moreira L.

    Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

    Cancers . 16(22): .

    [doi:10.3390/cancers16223779]

  • Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.

    Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de cites: 1

    [doi:10.1016/j.ejpn.2024.10.005]

  • Theron A, Alonso-Saladrigues A, Dapena JL, López-Duarte M, Diaz de Heredia C, Verdú-Amorós J, Sarrate E, Esperanza-Cebollada E, Cuatrecasas E, Andreu S, Conde N, Sanchez-Sierra N, Isola I, Camós-Guijosa M, Torrebadell-Burriel M, Rives-Solà S and Català-Temprano A.

    Secondary haematological dysplasia after CAR-T-cell therapy for acute lymphoblastic leukaemia in children

    BRITISH JOURNAL OF HAEMATOLOGY . : .

    [doi:10.1111/bjh.19862]

  • Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT and Mankad K.

    Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

    AMERICAN JOURNAL OF NEURORADIOLOGY . 45(10): 1570-1577.

    [doi:10.3174/ajnr.A8364]

  • Dominguez-Brezosa L, Cantarero-Abad L, Rodríguez-Sanz M, Tort-Vázquez G, Garrido E, Johanna Troya Balseca, Saez M, Castro-Martinez X, Fernandez-Lizarbe S, Urquizu E, Calvo E, Lopez JA, Palomo T, Palau F and Hoenicka J.

    ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(19): 10705.

    [doi:10.3390/ijms251910705]

  • Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimiento A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M.

    Inferring disease course from differential exon usage in the wide titinopathy spectrum.

    Annals of Clinical and Translational Neurology . 11(10): 2745-2755.

    [doi:10.1002/acn3.52189]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . : . Nº de cites: 1

    [doi:10.1038/s41431-024-01699-4]

  • Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.

    Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

    PEDIATRIC NEUROLOGY . 157: 5-13.

    [doi:10.1016/j.pediatrneurol.2024.04.027]